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Refsum disease
(Heredopathia Atactica Polyneuritiformis; HMSN Type IV; Neuropathy, Hereditary Motor and Sensory, Type IV; Phytanic Acid Storage Disease)
An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL hearing loss; ichthyosis; ataxia; retinitis pigmentosa; and cardiomyopathies. (From Joynt, Clinical neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of phytanic acid in peroxisomes.
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 Refsum's disease in an Arabian www.gfmer.ch |  Refsum's disease. flipper.diff.org |  Infantile Refsum Disease: Case www.ajnr.org |  As Refsum disease is an www.healthinset.com |
 Depiction of Refsum disease www.peroxisomekb.nl |  Infantile Refsum Disease is trialx.com |  What is Refsum disease? geneticpeople.com |  Adult Refsum disease is pathman.smpdb.ca |
Diagnosis and therapies
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Wikipedia
Infantile Refsum disease, Helge Refsum, Maja Refsum, Refsum disease, Tor Hermod Refsum, Alexander Refsum Jensenius, Marie Borge Refsum, Peroxin-7, Phytanoyl-CoA dioxygenase, Rhizomelic chondrodysplasia punctata
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